ABCB4
Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATP binding cassette subfamily B member 4 | MIM:171060 | Ensembl:ENSG00000005471 | HGNC:HGNC:45 | PA268 | 7q21.12 |
GO terms in ABCB4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001890 | placenta development |
| BP | TAS | GO:0006629 | lipid metabolic process |
| BP | IEA | GO:0006855 | drug transmembrane transport |
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0007595 | lactation |
| BP | IEA | GO:0007623 | circadian rhythm |
| BP | IEA | GO:0009914 | hormone transport |
| BP | TAS | GO:0019216 | regulation of lipid metabolic process |
| BP | IDA | GO:0032376 | positive regulation of cholesterol transport |
| BP | IMP | GO:0032376 | positive regulation of cholesterol transport |
| BP | IEA | GO:0032496 | response to lipopolysaccharide |
| BP | ISS | GO:0032782 | bile acid secretion |
| BP | IEA | GO:0033189 | response to vitamin A |
| BP | IEA | GO:0033231 | carbohydrate export |
| BP | IEA | GO:0033280 | response to vitamin D |
| BP | IEA | GO:0033762 | response to glucagon |
| BP | IEA | GO:0035633 | maintenance of permeability of blood-brain barrier |
| BP | IEA | GO:0036146 | cellular response to mycotoxin |
| BP | TAS | GO:0042493 | response to drug |
| BP | IEA | GO:0042908 | xenobiotic transport |
| BP | IEA | GO:0043215 | daunorubicin transport |
| BP | IEA | GO:0043278 | response to morphine |
| BP | IDA | GO:0045332 | phospholipid translocation |
| BP | IMP | GO:0045332 | phospholipid translocation |
| BP | IEA | GO:0046618 | drug export |
| BP | IEA | GO:0046686 | response to cadmium ion |
| BP | IEA | GO:0050892 | intestinal absorption |
| BP | TAS | GO:0055085 | transmembrane transport |
| BP | IDA | GO:0055088 | lipid homeostasis |
| BP | IEA | GO:0060548 | negative regulation of cell death |
| BP | IEA | GO:0060856 | establishment of blood-brain barrier |
| BP | IDA | GO:0061092 | positive regulation of phospholipid translocation |
| BP | IEA | GO:0071217 | cellular response to external biotic stimulus |
| BP | IEA | GO:0071236 | cellular response to antibiotic |
| BP | IEA | GO:0071312 | cellular response to alkaloid |
| BP | IEA | GO:0071392 | cellular response to estradiol stimulus |
| BP | IEA | GO:0071475 | cellular hyperosmotic salinity response |
| BP | IEA | GO:0071549 | cellular response to dexamethasone stimulus |
| BP | IEA | GO:0097068 | response to thyroxine |
| BP | IDA | GO:0099040 | ceramide translocation |
| BP | ISS | GO:1901557 | response to fenofibrate |
| BP | IDA | GO:1903413 | cellular response to bile acid |
| BP | IEA | GO:1903416 | response to glycoside |
| BP | IEA | GO:1904478 | regulation of intestinal absorption |
| BP | IEA | GO:1905231 | cellular response to borneol |
| BP | IEA | GO:1905232 | cellular response to L-glutamate |
| BP | IEA | GO:1905233 | response to codeine |
| BP | IEA | GO:1905235 | response to quercetin |
| BP | IEA | GO:1905237 | response to cyclosporin A |
| BP | IEA | GO:1990962 | drug transport across blood-brain barrier |
| BP | IEA | GO:1990963 | establishment of blood-retinal barrier |
| BP | IEA | GO:2001025 | positive regulation of response to drug |
| BP | IDA | GO:2001140 | positive regulation of phospholipid transport |
| BP | IMP | GO:2001140 | positive regulation of phospholipid transport |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005925 | focal adhesion |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | TAS | GO:0016020 | membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0030136 | clathrin-coated vesicle |
| CC | IEA | GO:0031526 | brush border membrane |
| CC | IEA | GO:0045121 | membrane raft |
| CC | IEA | GO:0046581 | intercellular canaliculus |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | TAS | GO:0005548 | phospholipid transporter activity |
| MF | IDA | GO:0008525 | phosphatidylcholine transporter activity |
| MF | IMP | GO:0008525 | phosphatidylcholine transporter activity |
| MF | IEA | GO:0008559 | xenobiotic transmembrane transporting ATPase activity |
| MF | IDA | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
| MF | IMP | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
| MF | IDA | GO:0090554 | phosphatidylcholine-translocating ATPase activity |
| MF | IMP | GO:0090554 | phosphatidylcholine-translocating ATPase activity |
| MF | IDA | GO:0099038 | ceramide-translocating ATPase activity |
Gene expression in normal tissue: ABCB4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABCB4
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1989781 | PPARA activates gene expression |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-382556 | ABC-family proteins mediated transport |
| reactome | R-HSA-400206 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-5619084 | ABC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| reactome | R-HSA-5678771 | Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1 |
| biocarta | mrppathway | multi-drug resistance factors |
| kegg | hsa02010 | ABC transporters - Homo sapiens (human) |
| kegg | hsa04976 | Bile secretion - Homo sapiens (human) |
| wikipathways | WP2797 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) |
| wikipathways | WP2879 | Farnesoid X Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP299 | Nuclear Receptors in Lipid Metabolism and Toxicity |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABCB4
CLASSFICATION
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